Special

HsaEX6093994 @ hg19

Exon Skipping

Gene
Description
FK506 binding protein 8, 38kDa [Source:HGNC Symbol;Acc:3724]
Coordinates
chr19:18650361-18654383:-
Coord C1 exon
chr19:18654296-18654383
Coord A exon
chr19:18652489-18652805
Coord C2 exon
chr19:18650361-18650530
Length
317 bp
Sequences
Splice sites
3' ss Seq
TCTCTGCCCCCCACTTCCAGGGC
3' ss Score
11.49
5' ss Seq
TGGGTAAGG
5' ss Score
9.08
Exon sequences
Seq C1 exon
GGCCGAACCTGGTTCCCGAGGCGCGGCGGCCGCGGCTGGGGGCGGGGAGGGGGGCGCAGGACCCCAAGTGGGGGTCCCGGAGCCAGAG
Seq A exon
GGCCAATTCCTGTCCCCCCAGCAGCATGGCATCGTGTGCTGAACCCTCTGAGCCCTCTGCCCCACTGCCCGCCGGGGTCCCACCGCTCGAGGACTTCGAGGTACTGGATGGGGTTGAGGATGCAGAGGGTGAGGAGGAAGAGGAGGAGGAAGAGGAGGAAGAGGATGACCTGAGTGAGCTGCCACCGCTGGAGGACATGGGACAACCCCCGGCGGAGGAGGCTGAGCAGCCTGGGGCCCTGGCCCGAGAGTTCCTTGCTGCCATGGAGCCCGAGCCCGCCCCAGCCCCGGCCCCAGAAGAGTGGCTGGACATTCTGG
Seq C2 exon
GGAACGGGCTGTTGAGGAAGAAGACGCTGGTCCCAGGGCCGCCAGGTTCGAGCCGCCCGGTCAAGGGCCAGGTGGTCACCGTACATCTGCAGACGTCGCTGGAGAATGGCACACGGGTGCAGGAGGAGCCGGAGCTGGTGTTCACTCTGGGTGACTGTGACGTCATCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000105701-'0-1,'0-0,2-1=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion (Ref, Alt. ATG (<=10 exons))

No structure available
Features
Disorder rate (Iupred):
  C1=NA A=0.980 C2=0.649
Domain overlap (PFAM):

C1:
NA
A:
NO
C2:
PF0025423=FKBP_C=PU(45.6=71.9)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
HIGH PSI
Chicken
(galGal3)
HIGH PSI
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCGAACCTGGTTCCCGAGG
R:
TGACGTCACAGTCACCCAGAG
Band lengths:
251-568
Functional annotations
There are 2 annotated functions for this event
PMID: 19546213
This event
Encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: affinity chromatography technology, anti tag coimmunoprecipitation, colocalization, competition binding, detection by mass spectrometry, fluorescence polarization spectroscopy, fluorescent resonance energy transfer, glutathione s tranferase tag, isothermal titration calorimetry, mutation analysis, protein array, pull down, subcellular preparation. ELM ID: ELMI002479; ELM sequence: LPPLE; Overlap: FULL
PMID: 23413029
This event
Encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: affinity chromatography technology, anti tag coimmunoprecipitation, colocalization, competition binding, detection by mass spectrometry, fluorescence polarization spectroscopy, fluorescent resonance energy transfer, glutathione s tranferase tag, isothermal titration calorimetry, mutation analysis, protein array, pull down, subcellular preparation. ELM ID: ELMI002479; ELM sequence: LPPLE; Overlap: FULL


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains